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Gene: PIGV

Green List (high evidence)
PIGV (phosphatidylinositol glycan anchor biosynthesis class V)
EnsemblGeneIds (GRCh38): ENSG00000060642
EnsemblGeneIds (GRCh37): ENSG00000060642
OMIM: 610274, Gene2Phenotype
PIGV is in 11 panels

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

PIGV, HGNC26031. From OMIM; Hyperphosphatasia with impaired intellectual development syndrome-1 (HPMRS1) is an autosomal recessive disorder characterized by impaired intellectual development, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy. The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis.
Childhood onset, severe, more than 5 unrelated families reported.
Created: 4 Feb 2025, 10:18 a.m. | Last Modified: 4 Feb 2025, 10:18 a.m.
Panel Version: 1.1456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398

Publications

Created: 4 Feb 2025, 10:18 a.m.
Last Modified: 4 Feb 2025, 10:18 a.m.
Panel version: 1.1456

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
OMIM
610274
Clinvar variants
Variants in PIGV
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pigv has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIGV were changed from Hyperphosphatasia with mental retardation syndrome 1, 239300 (3) to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIGV were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGV was added gene: PIGV was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)